Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumors to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for the proteins hamartin and tuberin, respectively, with TSC2 mutations accounting for the majority and tending to cause more severe symptoms. Drug resistant epilepsy is very common in TSC patients. In some cases, an appropriate study with high field brain MR, scalp EEG and in selected patients Stereo-EEG might be useful to detect. The epileptogenic tuber and propose a surgical approach to patients. Surgery in TSC patients might give a better long-term outcome in term of seizure control and cognitive development.

Three aberrant RNA phenotypes identified by RNA sequencing (RNA-seq). (A) Aberrant expression, (B) mono-allelic expression, and (C) aberrant splicing versus normal splicing.

Rosai–Dorfman disease (RDD) is a rare disease. For children with intraventricular bilateral giant masses of RDD, staging surgery facilitates prognosis.